What is a Rare Genetic Disease?

My husband has type 1 diabetes, a currently incurable disease. Nicholas was diagnosed at age 26, just six months after we were married. He had been losing weight for no apparent reason, and then he had what looked, to me, like the classic diabetic episode I had learned about in school. So he went to the doctor. Two, maybe three blood tests later, he had his diagnosis. Start to finish, the diagnostic process took about two days.

Diagnosis in hand, we were referred to a “diabetes education center.” It had its own wing in the local hospital. It was run by medical professionals who themselves had diabetes, to help the ballooning population of American diabetics understand and manage the condition. As we walked in, we passed magazines filled with pictures of happy diabetics climbing mountains, cooking healthy meals, and hugging their grandchildren. A grandmotherly nurse with diabetes sat us down and kindly said, “Welcome to your new life!” She and several other medical professionals gave us hours of one-on-one time, guiding us both through this change. A strapping young nurse showed us his insulin pump. We left with armfuls of booklets, needles, and free medication.

Did I mention it was finals week? A few days later, our family gave us diabetic cookbooks for Christmas.

Four years down the road, Nicholas has excellently-controlled diabetes. His long-term blood sugar levels are practically in the normal range. We subscribe to medical magazines. Nicholas sees a fantastic endocrinologist who specializes in diabetes and keeps up with the latest innovations and treatments. Nicholas also uses a continuous glucose monitor which transmits blood glucose readings to an app on his iPhone. A pharmaceutical company spent millions of dollars bringing it to market. He had several to choose from. As I type this, there are hundreds of scientists researching a cure to his disease.

Diabetes, while a very serious illness, is by no means a rare disease. When Nicholas was diagnosed, a community of support was waiting for us with open arms. For that we are very fortunate.

But what about those for whom there is no such community? What about those who are hard-pressed to find a medical professional who has even heard of their condition? What about those who bounce from doctor’s office to doctor’s office, just trying to find a name for their illness?

These are individuals with rare diseases.

In the United States, a rare disease (sometimes called an orphan disease) is defined as a condition that affects fewer than 200,000 Americans. Rare diseases are individually rare, but collectively common. By some estimates, as many as 1 in 10 individuals has a rare disease, translating to about 30 million Americans total. Eighty percent of rare diseases are genetic, and approximately 50 percent of individuals with rare diseases are children.

People with rare diseases often find themselves educating their medical providers about their condition. For many of these individuals, the diagnostic journey is long, difficult, and sometimes unsuccessful. Gaining access to treatment can be even more challenging. Ninety-five percent of rare diseases have no treatment currently available. Drug companies have little incentive to spend millions of dollars bringing a drug to market that will never be a big seller, as relatively few people will ever need it. Individuals with rare diseases have to fight for access to quality care and treatment. The sizeable task of advocacy often falls to family members and caregivers.

Fortunately, in recent years these families have banded together to form their own diverse community. Organizations like Global Genes and the National Organization for Rare Disorders (NORD) provide information, education, and tools to help patients and caregivers be their own advocates. They organize conferences and meetups so that individuals with rare diseases can find and support each other. They fund research, advocate within government, and reach out to those who are struggling.

Due to the hard work of these organizations, the United States congress passed the Orphan Drug Act in 1983, which incentivizes drug companies to develop treatments for rare diseases. The genetic and genomic revolution currently underway is leading to better detection and understanding of these conditions, both individually and collectively. The internet continues to bring rare disease communities together and for many, that community of support is just a Google search away. From where we stand, the future for individuals with rare diseases is looking brighter than ever.

About Author

Jenna is a board-certified genetic counselor at Recombine. She received a Bachelor of Science degree in genetics and biotechnology from Brigham Young University, and a Master of Science degree in human genetics from Sarah Lawrence College. Jenna is passionate about genetics education; her master’s thesis project involved developing and teaching a genetics course for student inmates at a maximum security women’s prison. Jenna now provides genetic counseling services to clients and physicians. Jenna loves helping individuals and families make sense of complicated technical information and understand how genetics impacts everyday life.